GANAB
Function
Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).
Involvement in disease
Polycystic kidney disease 3 with or without polycystic liver disease
PKD3
A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
GANAB variations may act as a disease modifier in autosomal dominant polycystic liver disease in patients who have causative mutations in other genes, such as PKHD1 or ALG8.
Pathway
Glycan metabolism; N-glycan metabolism.
Sequence Similarities
Belongs to the glycosyl hydrolase 31 family.
Tissue Specificity
Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053).
Cellular localization
- Endoplasmic reticulum
- Golgi apparatus
- Melanosome
- Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Alternative names
G2AN, KIAA0088, GANAB, Neutral alpha-glucosidase AB, Alpha-glucosidase 2, Glucosidase II subunit alpha